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    CCDC51 coiled-coil domain containing 51 [ Homo sapiens (human) ]

    Gene ID: 79714, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CCDC51provided by HGNC
    Official Full Name
    coiled-coil domain containing 51provided by HGNC
    Primary source
    HGNC:HGNC:25714
    See related
    Ensembl:ENSG00000164051 MIM:618585; AllianceGenome:HGNC:25714
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MITOK
    Summary
    Enables mitochondrial ATP-gated potassium channel activity. Involved in cell volume homeostasis and mitochondrial potassium ion transmembrane transport. Located in mitochondrial inner membrane. Part of mitochondrial ATP-gated potassium channel complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 4.8), spleen (RPKM 3.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC51 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (48432173..48446652, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (48460186..48474660, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48473583..48481529, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene F-box and WD repeat domain containing 12 Neighboring gene RNA, 7SL, cytoplasmic 321, pseudogene Neighboring gene plexin B1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14327 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48471449-48472442 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:48473797-48474996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48476193-48477035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14331 Neighboring gene ATRIP-TREX1 readthrough Neighboring gene translation machinery associated 7 homolog Neighboring gene ATR interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19829 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48507557-48508438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48508439-48509318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48509460-48510226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19831 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48513959-48514818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19833 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48515680-48516539 Neighboring gene three prime repair exonuclease 1 Neighboring gene shisa family member 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14333 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48542139-48542692

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Rat skeletal muscle, liver and brain have different fetal and adult forms of the glucose transporter. Wang C, et al. Biochim Biophys Acta, 1988 Dec 8. PMID 3145016
    2. Identification of an ATP-sensitive potassium channel in mitochondria. Paggio A, et al. Nature, 2019 Aug. PMID 31435016, Free PMC Article
    3. Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis. Wang X, et al. Cell, 2006 Nov 17. PMID 17110338
    4. The p97/VCP segregase is essential for arsenic-induced degradation of PML and PML-RARA. Jaffray EG, et al. J Cell Biol, 2023 Apr 3. PMID 36880596, Free PMC Article
    5. Histone methyltransferase DOT1L coordinates AR and MYC stability in prostate cancer. Vatapalli R, et al. Nat Commun, 2020 Aug 19. PMID 32814769, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of coiled-coil domain containing 51 (CCDC51) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12436

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mitochondrial ATP-gated potassium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell volume homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of mitochondrial ATP-gated potassium channel complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial ATP-gated potassium channel complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    mitochondrial potassium channel
    Names
    coiled-coil domain-containing protein 51

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001256964.2 → NP_001243893.1  mitochondrial potassium channel isoform 1

      See identical proteins and their annotated locations for NP_001243893.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC134772
      Consensus CDS
      CCDS2766.2
      UniProtKB/Swiss-Prot
      Q96ER9, Q9HA01
      Related
      ENSP00000379047.2, ENST00000395694.7
      Conserved Domains (1) summary
      TIGR02168
      Location:117 → 272
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    2. NM_001256965.3 → NP_001243894.1  mitochondrial potassium channel isoform 2

      See identical proteins and their annotated locations for NP_001243894.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses two alternate splice sites and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3, 4, 5, 6 and 7 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC134772
      Consensus CDS
      CCDS58830.1
      Related
      ENSP00000392898.1, ENST00000442740.1
      Conserved Domains (1) summary
      TIGR02168
      Location:8 → 163
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    3. NM_001256966.3 → NP_001243895.1  mitochondrial potassium channel isoform 2

      See identical proteins and their annotated locations for NP_001243895.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' region and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3, 4, 5, 6 and 7 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC134772, AL533758, BC011993, BP307614, BQ050243
      Consensus CDS
      CCDS58830.1
      Related
      ENSP00000412300.1, ENST00000447018.5
      Conserved Domains (1) summary
      TIGR02168
      Location:8 → 163
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    4. NM_001256967.3 → NP_001243896.1  mitochondrial potassium channel isoform 2

      See identical proteins and their annotated locations for NP_001243896.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' region and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3, 4, 5, 6 and 7 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC134772, AL533758, AW957929, BC011993, BG336520, BP307614
      Consensus CDS
      CCDS58830.1
      Conserved Domains (1) summary
      TIGR02168
      Location:8 → 163
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    5. NM_001256968.3 → NP_001243897.1  mitochondrial potassium channel isoform 2

      See identical proteins and their annotated locations for NP_001243897.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3, 4, 5, 6 and 7 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC134772, AK022498, BC011993
      Consensus CDS
      CCDS58830.1
      Related
      ENSP00000401194.2, ENST00000412398.6
      Conserved Domains (1) summary
      TIGR02168
      Location:8 → 163
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    6. NM_001256969.3 → NP_001243898.1  mitochondrial potassium channel isoform 2

      See identical proteins and their annotated locations for NP_001243898.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3, 4, 5, 6 and 7 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC134772, BC011993, BP307614, BQ427785
      Consensus CDS
      CCDS58830.1
      Conserved Domains (1) summary
      TIGR02168
      Location:8 → 163
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    7. NM_024661.5 → NP_078937.3  mitochondrial potassium channel isoform 1

      See identical proteins and their annotated locations for NP_078937.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC134772
      Consensus CDS
      CCDS2766.2
      UniProtKB/Swiss-Prot
      Q96ER9, Q9HA01
      Conserved Domains (1) summary
      TIGR02168
      Location:117 → 272
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      48432173..48446652 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534113.3 → XP_011532415.1  mitochondrial potassium channel isoform X1

      Conserved Domains (1) summary
      TIGR02168
      Location:137 → 292
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    2. XM_047448938.1 → XP_047304894.1  mitochondrial potassium channel isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      48460186..48474660 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347886.1 → XP_054203861.1  mitochondrial potassium channel isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96ER9.2 GenPept UniProtKB/Swiss-Prot:Q96ER9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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